Cochlear implant investivation

Visited sydney cochlear implant centre to investigate whether there might be any benefit in a cochleat implant in Raphael's left ear.

I have given up looking into sound localisation because we have found that Raphael's left ear seems to be as good as dead now. To be fair, I should say that it is actually fluctuating but even on its best day Raphael does not get any useful hearing out of it. I suspect that it has something to do with the sensorineural loss but regardless of what the cause is, he can't hear out of his left ear anymore. We will look into other options now such as crossovers or maybe cochlear implants but we are in no rush to mess with this at the moment.

I had the first appointment today specifically for sound localisation. The Audiologist said that severe loss in the low frequencies is the cause for the inability to localise sounds. Hearing aids focus on speech, of course, and so they are not providing the info for localisation. Having said that there is a chance that some directional hearing can be taught. From this we appointment we have a course of action:

1. Speak to Australian Hearing to make sure that Raphael has the best amplification possible. I feel as though we may be able to do better for his left ear.
2. Speak to his teacher of the deaf to try to implement a programme for training sound localisation. I realise that Raphael might not be able to localise sounds in the same way as I can. However I am hoping that, in the same way that he can walk without a vestibular, he will find a way to compensate and learn how to localise sounds using different cues.
3. Speak to an ENT to make sure that there is nothing more that we can do for his left ear.
4. Do some online research into sound localisation training.

My child has just been diagnosed with CHARGE syndrome, what should I do?

BIG DISCLAIMER: I have no relevant qualifications other than being a parent of a child with CHARGE syndrome.

This is my attempt to provide a hand specifically for people who have just had their child diagnosed with CHARGE syndrome. There are so many things that you need to do it can be overwhelming. Here are some of the things that helped us and our child and therefore would recommend to others in similar situations.

• Get medical experts.
• Get a good baby sitter network for other kids.
• Early intervention (physiotherapy, occupational therapy, speech pathologist, hearing and vision specialists).
• Possibly learn sign language to give your child a language as early as possible.
• Get respite assistance.
  
• Get financial assistance.
• Get concessions.
• Get disabled parking permit.
• Look out for the emotional well being for yourself and the rest of the family too.
  
• Talk with your work about the extra time off that you are going to need with short notice over the coming years.
  

When dealing with medical experts:

• If you feel intimidated or overwhelmed then you can bring a support person with you. Advocacy groups in your state can help with this if you don't know someone who is outspoken and blunt enough. (Thanks for this tip Tricia)
• Make sure you have doctors who are willing to spend a lot of time with you (be prepared to sit in waiting rooms a long time to see these doctors).
• If you don't understand anything that they say (concepts or words) make sure you ask them to explain what they mean. It takes a long time to get up to speed but empowers you with the knowledge of what is wrong with your child and how you can improve their condition. Also get them to spell words that you don't understand so you can look them up at your leisure later.
  
• Audio record your consultation. Of course you need to get each doctor's permission before recording them. Listen to the Audio recordings. Recollections aren't as good as recordings and we sometimes find that we misunderstood what the doctor was saying in the consultation and it makes things a lot clearer. Also, if you can find the time, take notes from the audio recording (and mark how far through the recording it was taken from) so you can look over them again in the future. We have gone back to our notes a few times to look for information that was talked about but not written in any letter or report. We have found audio recording so useful that we are considering making it a requirement for when we choose doctors for Raphael. We have dealt with two specialists who have not permitted audio recording and we have found that we have not received adequate information from those consultations. Don't believe doctors when they say they will write a letter including everything that you have talked about, their letters contain useful information but are never complete enough.
  
• Write questions down on a piece of paper before you go to the consultation.
• Let the doctor run the consultation until the end when you have your questions.
  
• Ask the questions that you have even if you think that they have already answered previously, sometimes the answer is not what you thought it was going to be.
• Write down the answers meticulously and make them slow down if you can't keep up.
• Confirm each party's action plans at the very end eg:
• We will see the doc in 2 months for follow-up.
• We will arrange appointment with ENT to ask about airway problems.
• We will change feeding schedule to 600ml of milk and 150ml of puréed solids per day.
• Doctor will talk with ophthalmologist and surgeon to arrange combined eye and stomach surgery.
• Chase up your consultant after the appointment to make sure that they are doing what they have agreed to do.
  
• Request letters to be sent to your paediatrician and yourself.
• Obtain and maintain a complete file of letters and test results. Sometimes doctors are slack in giving you copies of reports and letters. Don't let it slip. Every letter and test result is useful and may be asked for in the future by other specialists. Organise the file so you can be sure to be able to find all of the information easily and quickly so that you can bring it out when it is asked for in other doctor consultations. Eg we file all letters from ENTs together, we also file similar tests together such as all echo cardiographs.
• Get second opinions. The decisions you make now could effect your child for the rest of their life.
• Keep a simple list of dates for when things happen (eg when tests were performed, surgeries, introduction of things like cpap, gastric tibes and when they stopped)
  

When dealing with allied health professionals and teachers (physiotherapists, dieticians, occupational therapists, speech pathologists, vision teachers, orientation and mobility specialists, hearing teachers):

• At the end of the therapies/consultations get them to write something short including:
• a comment on your child's progress
• next developmental features to aim for
• some things that you can do at home to promote development (you have plenty to do so make sure it is something that you are going to have time to do).
  
• comments that they think would be helpful for Doctors
• having combined session with multiple professionals is considered an advantage but make sure that you get input from each professional. Sometimes the quieter professionals sit back a bit much and you may have to actively encourage their input. In the same way, sometimes a talkative one will dominate the consultation, don't be afraid to say something like "I would really like to get the OTs opinion on his fine motor skills" to shift the focus.
  

When in hospital:

• treat it as much like home as you can.
• when nurses come around to see you don't feel that you have to stand on ceremony.
• if you want something (anything) ask for it.
• use the call bell thing, that is what it is for.
• in shared wards, 3/4 of people want to talk but don't know how to start.
• bring your own pillow for a much more comfy stay.
• if someone is going to conduct a painful test that you didn't know about then speak to a doctor first or find out who the requesting doctor is. If you don't know who the requesting doctor is then don't let them do the test until you have spoken to a consultant. It might be a mistaken order or supposed to be for someone else.
  
• hospital is a boring place. Bring something to do. Be careful about things that require power though, the hospital might not want you to plug in any equipment into their wall sockets. Instead make sure you have a healthy supply of batteries for all of your electronic stuff. I am very glad that I invested in a portable media player (you could buy a portable DVD player instead). The hospital might have a DVD player that you can use to play DVDs so you might like to splurge on a stack of them before you go into hospital to you can watch your favourite series or movies.
• don't feel that you are confined to your bed or room. Even when hooked up to all manner of machinery it still may be possible to go for a walk. Just press the call button and ask (if you want to).
• sleep at home not in the hospital (if your child will let you). There is not much that you can do at night that a nurse can't do and in a busy hospital there are plenty of interruptions to wake you up and wreck your sleep. Better to be come back in fresh and early then to be there all night, with nothing to do, and groggy and useless all day.
• doctors do their rounds at extremely unpredictable times. If you have to go out for some reason and you haven't seen the consultant yet then make sure you tell your nurse that you would like to see the consultant when they do their rounds because otherwise you might miss them.
  
• There are tonnes of people that might be called doctors (correctly or otherwise): students, interns, residents, registrars and consultants. Ask them what they are before spending time talking with them or being touched by them.
  
• Students: you are too busy to talk with these poor sapllings. Give them a polite smile and then forget that they are there.
• Interns: shipped from department to department, they are doing everything for the first time. They often look like startled rabbits and may have nervous twitches. Don't let interns touch your kid, let them get their practice on someone less complicated.
• Residents: I don't think I have met many residents. I suspect that these guys are the ones that do what the nurses tell them to do (eg writing scripts for drugs).
• Registrars: These guys range from just useful to very competent. Get to know the registrars in your area if you can. They will be the ones managing tests and important medications.
• Consultants: These are real doctors with lots of experience (there are still good and bad of course). You will want to have consultants, who you know, managing each important area. These are the only people who are actually worth asking any important questions to but it is hard to get enough time with them. They will rarely perform tests themselves, although they are very competent in doing so. Always get consultants to explain the results of tests. If your consultant doesn't give you enough time or you don't understand them properly or you don't trust their opinion then get another consultant.
  

On a final note, I would be very happy for people to comment on this post to pick up things that I have missed.

Good luck!
Paul

It has been a long time

It has been a long time since my last post but I wanted to say that this year Raphael has undergone intensive speech pathology and his talking skills have take a couple of huge steps forward.

It is obviously still hard work for him to understand what people are saying to him but he is an eager learner and all the hard work that everyone is investing in him is being reflected well in his progress.

Guess what Raphael did

A poo in the toilet!

This is the first one that we have cought. Raphael was also excited to let us know and wanted us to immediately have a look at the brown deposit. It wasn't big, but it was there.

We rewarded him him with a piece of chocolate and after enjoying that piece he decided to go straight back to the toilet to do more. And surprisingly enough he was able to do more!

Hopefully this is the beginning of a trend of poos in the toilet rather than clothes.

Australasian CHARGE Conference 2010

We took some realy valuable information away with us from the Australasian CHARGE conference this year.

Some more information on the conference can be found here:
http://www.chargesyndrome.org.au/conference2010.html
But the really valuable stuf came from talking to the presenters and other attendees.

Chronology of events that doctors are usually interested in

When we see new consultants (which seems to happen frequently) they like to get a full medical history. This takes ages and we usually forget when things happened so I am compiling this list to help me with this.

colour legend:

• general notes
  
• doctor visits
  
• medical test results
  
• early intervention / therapy
  
• noted development milestones
• General hospitalisation
  
• Surgery

Raphael's timeline:

• 18/3/2006 - Raphael Bartlett born at term (on due date).
• birth weight 4.055kg.
• Initial anomalies noted: wonky ear, facial palsy, slightly low set ears.
• Gurgley breathing.
  
• Failed to reach birth weight by the time he left hospital (3.78kg).
  
• 11/5/2006 - first doctor appointments concerning weight gain (paediatrician and ENT).
  
• ENT noted laryngomalacia and mucus pooling at the back of his throat.
• 11/5/2006 first doctor appointments concerning weight gain (paediatrician and ENT).
• 11/5/2006 - first barium swallow showed significant aspiration and oesophageal reflux and that his oesophagus may be being slightly squeezed by an artery.
• 26/5/2006 - first echo cardiograph reported as showing a small ASD (Atrial Septal Defect) but other cardiologists since have also referred to it as a PFO (Patent Foramen Ovale).
• May - December 2006 - various attempts tried for oral feeding including:
• Using herbs to stimulate milk production.
• Expressing milk and adding HMF (Human Milk Fortifier).
• Using formula at a controlled increased concentration.
• Finally tried using Infantrini (high energy premixed formula).
• Higher intake was achieved but Raphael started vomiting large amounts undoing all the good work that we were doing.
  
• 31/5/2006 - started osteopathy for Raphael's facial palsy.
• September 2006 - first opthalmologist visit. He noted major left eye probelms rendering it practically useless and also commented on monir right eye problems.
  
• 1/9/2006 - Raphael rolled over for the first time (all the way).
  
• 19/9/2006 - Raphael takes solids for first time. Paediasure (complete feed supplement) added to fortify. Consumption of only liquids and pureed foods continue to 1/11/2008 but still remain the staple to date (6/1/2009).
  
• 24/10/2006 - first audiologist appointment reveals some hearing loss. Further test requirted to determine extent.
  
• 30/10/2006 - started Early intervention at Early Learning Tasmania.
  
• 10/11/2006 - Hearing test (ABR) revealed 40db loss in left ear and 50db loss in right ear
  
• 24/11/2006 - another echo cardiograph still shows the hole in his atrial septum.
  
• 28/11/2006 - another type of barium swallow done and no fistula was found between the oesophagus and trachea.
  
• 8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube) inserted in hospital which will be used to supplement his daytime oral feeding with overnight. This proved to be extremely effective.
  
• 18/12/2006 - MRI performed on head and upper chest. Cranail nerve anomalies were noted allong with a hypoplastic vestibular system rendering it useless. Reacted poorly to anaesthetic and hospitalised for one night (post intubation stridor).
• 20/12/2006 - consulted with geneticist who was still unsure what condition Raphael was experiencing. He suggested that some parts of Raphael's symptoms was similar to CHARGE syndrome but he did not beleive that is what Raphael had partly due to the asymitry of Raphael's problems.
  
• 11/1/2007 - Ophalmologist noted high right eye pressure, but still within normal limits
• 12/1/2007 - Geneticist now states that Raphael has CHARGE Syndrome
  
• 15/1/2007 - CT scan performed but movement has reduced its resolution significantly only showing fluid filled middle ear cavity.
  
• 1/2/2007 - Started learning and teaching Auslan to Raphael as language seems to be delayed.
  
• 13/2/2007 - Started to crawl backwards.
  
• 17/2/2007 - Raphael has started sitting unaided.
  
• 22/2/2007 - Started commando crawling.
• 23/2/2007 - Renal ultrasound showed no anomalies.
  
• 28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
• 5/3/2007 - Used first Auslan sign (hello).
  
• 11/3/2007 - used pincer grip.
  
• 15/3/2007 - kneeling for first time.
  
• 21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
• 26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
• 27/3/2007 - Crawling on hands and knees (classical crawl) for first time.
  
• 4/4/2007 - signing finished (appropriate usage of the sign).
• 4/4/2007 - moves from crawling to sitting comfortably.
  
• 18/4/2007 - General anaesthetic incorporating a number of procedures:
  
• CT scan gives no additional information apart from a possible cholestatoma in middle ear. ENT comments that this cannot be seen clinically and therefore it is probably just fluid buildup.
  
• Grommet insertion surgery.
• ABR test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
• eye pressure test shows normal pressure.
  
• 24/4/2007 - Hearing aids fitted for first time.
  
• 4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
• 9/5/2007 - commenced CPAP with intensivist in hospital.
  
• 1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
• 22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
• 27/6/2007 - Cruised for first time (walking while holding onto a surface).
  
• 9/7/2007 - stopped NGT feeds for oral feeding trial (never went back to tube feeding). He was scheduled to have Fundoplication and Gastrostomy but he was sick when it was supposed to happen and the this successful oral feeding trial has made it unneccessary.
  
• 8/8/2007 - Parasomnias noticed. Started out with sleep sitting but went on to sleep standing and night-terrors. These eventually subsided by the middle of 2008 and appear to have completely gone by 2009.
  
• 21/8/2007 - Barium swallow video fluoroscopy test. Showed aspiration of thin fluids (such as milk) but no sign of reflux during the study (he vomited afterwards though).
  
• 15/9/2007 - makes the following sounds: "dya-dya-dya", "adaadaadaadaa", "aiyaiyaiya", "mama", "ba". this is notbale becuase he doesn't make any new sounds for over a year from here.
  
• 27/9/2007 - commenced occlusion thereapy by patching Raphael's right eye to try to stimulate the development of his left eye vision. We kind of talked the ophalmologist into giving us patching advice, he did not think that patcihng will help.
  
• 12/10/2007-13/10/2007: admitted to hospital because of very large tonsil airway obstruction concerns.
  
• 1/11/2007 - Second oppinions sought in Sydney from education specialists, therapists, paediatrician, ENT, opthalmologist, cardiologist, thorasic surgeon (sleep specialist). Only new recommendation is to have adenoids and tonsils removed.
  
• 30/1/2008 - taking first unaided walking steps.
  
• 11/2/2008-13/2/2008: brought into hospital because of concern about possible dehydration; admitted to hospital with pneumonia.
  
• 28/2/2008 - signs about 5 signs.
  
• 12/3/2008 - Nearly suffocated to death on vomit in CPAP.
  
• 28/3/2008 - confident walking with trolley.
• 7/4/2008 - walks confidently.
• 8/5/2008-10/5/2008: admitted to hospital with pneumonia, suspected viral, temperature peaked over 40.
  
• 16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
• 4/7/2008 - adenotonsilectomy performed in the hope that it would improve breathing at night.
  
• 31/7/2008 - ophalmologist acknowledges that patching has improved raphael's left eye and it now provides peripheral vision.
  
• 4/10/2008 - Australasian CHARGE Syndrome conference in Christchurch, New Zealand.
• 20/11/2008 - Sleep study in Monash showed that CPAP level should be set to 5.0.
• 13/12/2008 - eats chocolate cake without choking
• 15/1/2009 - third echo cardiograph still shows the hole in his atrial septum.
• 1/1/2009 - started to use two sign phrases (not just two gestures)
  
• 16/1/2009 - eats bread without choking
• 18/1/2009 - eats toast and a fresh apricot without choking
• 8/4/2009 - Jumped for the first time (both feet off the ground)
  
• 9/4/2009 - eats just about anything except fibrous meat and crunchy foods (like apple)
• 27/3/2009 - Renal ultrasound shows no issues
• 10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
• 29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
• 22/5/2009 - started at ABC learning childcare 1 day per week for socialisation
• 8/2/2010 - now able to make k sound can make dy sound sometimes
• 4/6/2010 - can make an s sound in specific circumstance "is"
• 13/8/2010 - made a "sh" sound for the first time but is unreliable in reproduction
• 13/8/2010 - started 2 half days at local kindergarten as a prekinder type of experience
• 1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
• 13/9/2010 - Renal ultrasound shows now issues
• 29/9/2010 - eats everything but occasionally has a bit of a cough

Summary of chronology summary

As my wife bluntly pointed out to me, the last timeline summary is very difficult to pick out individual items. Thankfully she created this summary summary. Indeed this is much better for the job.

• 28/11/2006 - barium swallow (2).
• 8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube).
• 18/12/2006 - General anaesthetic (1) - MRI (1) performed on head and upper chest.
• 12/1/2007 - Geneticist states that Raphael has CHARGE Syndrome.
• 15/1/2007 - CT scan (1).
• 23/2/2007 - Renal ultrasound (1).
• 26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
• 18/4/2007 - General anaesthetic (2) incorporating a number of procedures:
• CT scan (2).
• Grommet insertion surgery.
• ABR (2) test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
• 24/4/2007 - Hearing aids fitted for first time.
• 9/5/2007 - commenced CPAP with intensivist in hospital.
• 9/7/2007 - stopped NGT feeds for oral feeding trial.
• 8/8/2007 - Parasomnias noticed.
• 21/8/2007 - Barium swallow (3) video fluoroscopy test.
• 27/9/2007 - commenced patching Raphael's right eye.
• 4/7/2008 - General anaesthetic (3) adenotonsilectomy performed.
• 20/11/2008 - Sleep study in Melbourne Childrens Sleep Unit Monash Hospital.
• 15/1/2009 – echo (3)
• 27/3/2009 - Renal ultrasound shows no issues
• 10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
• 29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
• 1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
• 13/9/2010 - Renal ultrasound shows now issues

Oxymetry study

Raphael stayed in hospital last night to confirm that his breathing is still ok over night.

The results were all good and so I think that finally marks the absolute end of his night time breathing problem.

New sound "Sh"

I am not sure if I have mentioned it before but we take Raphael to a private speach pathologist and she is fantastic!

Just this last visit she taught him to produce a new sound in just a couple of minutes "Sh".

We have seen a large number of speech pathologists and it seems that very few have the skills required to teach Raphael how to make new sounds. If you don't think that you are making progress with your speech pathologist then I strongly recommend that you ask around for recommendations for good speech pathologists. One thing to watch out for though is that good speech pathologists can get away with charging like a wounded bull.

Paul

Local Primary School

Raphael is getting some early intervention in the local primary school to push his communication and socialisation skills.

So far it is working extremely well. He is really trying hard to use words to talk with people although his lack of distinct sound production ability makes it hard to understand.

The new sound "s"

Today Rapahel made a new sound "s".

He did this at the end of a word that he was copying "Always"

It is not a very confident sound but it is being made with the correct part of the mouth rather than him using the constant fluid in his nose to make an s whistle when he breathes out his nose.

We are still trying to get him to confidently end words with k and make dy sounds but this seems to get better and worse over time. At least he is making some progress, even if it is in an area that we have not been trying to teach him.


Ironically his Chinese can be quite clear but he has a very limited Chinese vocabulary. Mostly "I want" and "I don't want"

Raphael in China 2

The future star experimental kindergarten. The day before Raphael was expelled from his school Annie and I walked past this child care centre. Oddly enough, this was the place that Annie had researched in Australia but when we got to China, Annie’s father had already organised a few other ones so we went to that one instead. When we brought Raphael into the centre we were taken to the area that Raphael would be in and immediately they asked when he could start. He, of course, charmed the teachers immediately, as he always does, and we have not had a problem since. The monthly fees are more expensive than at the other place but because we didn't have to pay an initial signing fee and we didn't need to offer an financial incentive for teachers to not resign (we were prepared to pay Y1000 ~AU$200) it worked out Y100 cheaper than before.

A display in the child care centre that we noticed after a while of taking Raphael there. Certainly not the attitude of the previous child care centre.

Not an atentive boat driver

Other photos...

Raphael in China 1

Baobao’s first child care. We looked at a few of the nearby child care centres and decided that this was the best one. When went there we met the carers (“teachers” in China) and the office staff and they met baobao. They told us what the next step would be and they told us that we needed to go and get a blood test taken. After having this done we brought him in and paid the money then we met the principal. She took one look at baobao’s hearing aid and immediately said that they could not accept Baobao in the centre because of his diability. To reduce the length of what is a long story she eventually recognised that they had already caused Raphael to have a blood test for acceptance and so she accepted him. The story does not end there though.

The following day when we turned up she met Annie and said that she had found out from the teachers that Raphael was still wearing nappies (we had told the teacher about this when we came in previously) and that this was another reason that they could not accept him. She said that they would be happy to trial him in the centre for two days to see how it went. So we left him there. That evening when we went to pick him up, the principal said that one of the teachers had handed in a letter of resignation because of baobao and if we could convince her to stay then baobao could stay.

The next day Annie went to talk to the teacher who had written the letter of resignation and she said that she had not resigned and that there was no problem as far as she was concerned. In fact the same was for all 4 teachers of baobao’s class and the medical officer in the centre said that Raphael was fitting in fine and seemed to be very intelligent, already knowing what was going on despite the language gap (hmm, something fishy is going on with that principal). The end result was that Raphael was expelled despite us meeting every requirement and even offering a significant amount of more money to help the centre meet the additional costs of looking after him (which there were none). We did not want to push the matter any further because it was clearly not a matter of finding solutions to problems but rather some kind of phobia. If the principal does not want Raphael in the centre then we don’t want Raphael there either. So we looked for a new child care centre (more on this later).

                                                                                                                                                                                          

Later the medical officer called us saying how bad she felt about Raphael being rejected. She was very sweet and kindly offered her time to help us push the matter further or find another centre but by that stage we had already found another child care centre.

Raphael turned 4  years old while we were in China.

He can still vomit at short notice, but is less likely to get it on himself now

Kite flying

Other Photos...

Raphael's colobomas

I have a special treat for you today.

The ophthalmologist kindly agreed to take photos of Raphael's coloboma. We did not get a photo of the right eye coloboma becuase it is quite low but there are some good ones of the left eye.

Left:

Right:

If people are interested I amhappy to explain the parts of the images (as far as my eye anatomy will allow me to do so).

Practicing ...k and ...dy

Progress update

After a long time on no apparent speech progress we change strategy about a month ago and we have had some success.

We have stopped giving him what he asks for when he signs for something and have demanded that he also have a good try at saying the word/sentence also. This seems to have paid off because in the last couple of weeks he has started using multi-word sentences and in the last couple of days his pronunciation has improved a lot. He is even occasionally letting a "t" slip out.

And here are some updated photos...

It has been a long time since the last post

Q: So what has been happening lately?
A: The regular drudge of appointments of course.

In addition to the occasional doctor appointment, this is what a typical week looks like at the moment:

Monday: Signing with a deaf adult followed by the early intervention playgroup

Tuesday: Speech Pathology

Wednesday: RIDBC (Royal Institute of Deaf and Blind Children) videoconference

Thursday: Teacher of the Deaf - teaching listening skills.

Friday: Childcare in a mainstream childcare centre. We are hoping to give him some real world exposure rather than the world of therapy and "special needs" that he is immersed in for the rest of the time.

An example home speech pathology session

First day at daycare

More sleep studies

Raphael had two more sleep tests in Hobart and he continued to maintain excellent saturations over night. So with this information we organised another full Polysomnography test in Melbourne for 29-30/4/2009.

To cut a long story short, this latest test confirmed the good results that he appeared to be having in Hobart.

The Doctor told us that the previous test in Melbourne showed 23 apnoea events each hour. To put this in perspective 1 is normal and 5 is extreme so Raphael was really struggling then. This recent test showed that Raphael had improved down to just 3.5 events per hour. This result is good enough to put a stop to CPAP. We were warned not to get rid of the machine though because if he comes down with a respiratory infection then he may need to temporarily go back on it again.

We also still need to continue to monitor him because since he has stopped CPAP we have noticed that his stridor (gurgly/raspy breathing) has come back again strongly during the day. If this is still there after six months then it may be worth another full sleep study in Melbourne to make sure that nothing is getting worse with his sleeping.

As for Annie and I, we are celebrating the opportunity of getting uninterrupted sleep for the first time in three years.

And a short video like the one from 2008:

Simple Sleep Study

Raphael had a simple sleep study performed last night in hospital. This is mainly to monitor his blood oxygen saturation while not on CPAP.

The results were good in that he maintained good oxygen levels all night without a single desaturation. He even has a slight upper respiratory infection at the moment so this was an excellent effort.

We will leave him off CPAP at home for the next few nights and he will go back into hospital on Monday night to see if things are still the same.

Questions people keep asking us (or should ask us)

I will slowly modify and add to this over time

Name: Raphael Shalom Bartlett
Birth date: 18/3/2006
Handedness: Right ( I think)

Chief Problem: CHARGE syndrome

Mother and Father: Paul and Annie Bartlett

home phone: ___________________

mobile: ___________________

Important:
before performing any test or invasive procedure on Raphael (including suctioning) try to call me on my home number and work number. We find that Raphael is often given incorrect types of tests because of his complicated situation.

Don't suction Raphael, just wipe his nose if necessary.

Raphael has a very sensitive Gag reflex, touching the top of his tongue with a tongue depressor is usually enough to trigger a vomit.

Allergies:
No known allergies but:

• Codeine is a candidate as a cause for a particularly bad oxygen desaturation while sleeping in hospital once.
• Raphael is at high risk of aspiration (and aspiration pneumonia) because of his swallowing dysfunction and reflux/vomiting. Close observation is necessary while Raphael is drinking and eating.

Sleeping:
Raphael has two sleeps of a day:

1. Afternoon sleep from about 14:00 to 16:00
2. Night sleep from about 19:30 to 07:00 with CPAP
   

Raphael's airway is less obstructive if he sleeps on his side but he may roll onto either side and/or his back during his sleep. Raphael is used to falling asleep by himself and will do so by himself at his sleeping times unless there is too much stimulation. Before his sleep time, remove his hearing aids (and turn off) and it is generally a good idea to drape sheets over the side of his cot (if in hospital) until he is asleep so that he does not get distracted by the other activity in his room. If he is woken up during his afternoon sleep then it is unlikely that he will go back to sleep.

Feeding:
Raphael is transitioning from fortified foods to family meals.

Currently he has a number of sources of nutritian intake:

1. Milk (Nutrini high-energy multi-fibre) by straw cup
2. Slice of bread spread with "paediasure butter" (three scoops of paediasure mixed with small amount of water to make a spreadable texture).
3. Sustagen Icecreams (Sustagen made up to a thick consistency and then frozen on a paddlepop stick to make an icecream).
4. Offered family foods at meal times. He still has occasional trouble with fibrous meat (eg beef/pork) and crunchy foods (eg raw apple) so it is neccessary to observe him while he is eating these things.
   

If Raphael starts to cough then it is possible that he is about to vomit. Always be prepared with a decent sized cloth nearby to catch it.

When Raphael has eaten enough he might sign "finished" by twisting his fists slightly. He may even vocalise "A'da" (all done) as well and refuse food by turning away or pushing the food away.

When Raphael is sick he is less likely to want to eat foods and usually prefers Nutrini.

Milk (Nutrini) by straw cup
Raphael drinks milk throughout the day as he wants. He could drink anything from nothing to 400ml depending on his mood.

For the milk feed, allow Raphael to sit up and hold the cup himself. He would like to be able to put the cup on a flat surface that he can reach to drink again at a later time.


CPAP:
Raphael sleeps at night with his CPAP machine to reduce his sleep apnoea. Normally his setting is at 5.0.

Our CPAP routine is:

1. Attach oxygen saturation probe.
2. fit CPAP mask. Note that the top three straps should be left alone as they don't need to be adjusted and if they are then it makes it harder to fit later.
3. Turn on CPAP.
   
4. When removing the CPAP mask, turn off the airflow and then disconnect both lower straps. Leave the top three straps alone.
   

Blood Oxygen Monitoring:

• Raphael's normal awake blood oxygen saturation is usually between 95%-100%.
• When deep sleeping he can desaturate down to 75% and his airway obstructs often. Raphael's obstructions appear to be worse when sleeping on his back and/or if his head is tilted forward.
  
• When sleeping with CPAP his saturations are usually between 97%-100%, sometimes as low as 95%
  
• When Raphael is sick his saturation fluctuates between 85%-93% while he is awake. while he is asleep this can be worse.
• When sick and on CPAP his saturations have been measured at around 91%. Adding a small amount of oxygen to the flow (even as low as two litres/minute) can bring his saturations back up to 95%.
  

Comforting:
If we (the parents) are not on the ward then we will not be far away. Common causes for when he is grumpy:

• Nappy needs changing
• Tired
• High temperature
• Frustrated about being unable to do something
• Wants something but is not getting it. Common wants include drink (Nutrini), bread, TV, or whatever he is pointing at.
  

Raphael might throw mini tantrums if he does not get something that he wants. If he can't have it tell him no. We don't mind if he chucks a temper tantrum.

Raphael loves to walk around and always enjoys exploring the playroom. Cars, aeroplanes, books and puzzles are usually winning toys.

We recognise that in hospital television is a useful tool to distract children from their problems and it is possible to distract Raphael with television but keep in mind that his moderate to severe hearing loss and left eye blindness can reduce his interest. The following are some tips to overcome this:

• Fit his hearing aids and turn them on.
  
• Make sure he is sitting squarely towards the visual stimulation.
• Do not amplify the sound to a level that you think is too loud for yourself; this may distort the sound that Raphael hears.
• Even Raphael's good eye (right eye) has a problem that makes it difficult for him to see objects higher than eye level. It would be better if the visual stimulation was provided at his eye level rather than requiring him to look up to see it.
  

Communication:
Raphael has a moderate to severe hearing loss in both ears which is manageable with hearing aids. With or without hearing aids Raphael understands and uses some sign language. Useful signs that he uses include:

• "bed time"
• "drink"
• "hungry" and "eat"
• "Medicine"
  
• "Finished"
• "More"
  
• "Tissue"
• "Bib"
• "Shoes"
  

Raphael is effectively blind in his left eye and his right eye may have a reduced upper field of vision. Engage him front on and at his eye level to get his attention.

Daily Routine:

• ~6:00-7:00: Raphael wakes up. We disconnect his CPAP when he wakes.
  
• ~8:30: Offer Nutrini Energy Multi Fibre (in a straw cup) and bread spread with "Paediasure butter" (see above). He may also want a tiny amount of cereal with milk.
  
• ~10:30: Maybe hungry again, offer left overs from breakfast.
• ~12:00: Offer whatever is going for lunch. He is usually fond of bread, so you can't go wrong with that.
• ~14:00-16:00: afternoon sleep (sleeps for 1-2 hours)
• ~16:00: Offer Nutrini Energy Multi Fibre (in a straw cup)
• ~17:00: Offer whatever is going for dinner.
  
• ~20:00: Night time sleep
• Offer Nutrini Energy Multi Fibre (in a straw cup)
• Brush teeth
  
• Connect CPAP mask and then turn it on (8.0 normally but sometimes raised to 9.0 when he is sick). Raphael usually falls asleep within a few seconds of the CPAP turning on)
  

Bathing:
We normally bath Raphael once per week on a Saturday. You can bath him more if you want (eg in case of a huge vomit)

Previous Hospitalisations:

• 20/11/2008-21/11/2008: Sleep study in Monash
  
• 3/7/2008-6/7/2008: adenotonsilectomy
  
• 16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
  
• 8/5/2008-10/5/2008: admitted to hospital for pneumonia.
• 11/2/2008-13/2/2008: admitted to hospital for pneumonia.
  
• 12/10/2007-13/10/2007: admitted to hospital because of upper respiratory infection and swolen tonsils. Constant observations because of possible risk of tonsils closing airway while sleeping.
  
• 22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
• 1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
• 4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
• 17/4/2007-19/4/2007: CT scan, grommet insertions, ABR test and eye pressure test under general anaesthetic. Good result from anaesthesia. This hospital stay noted the Codeine incident (see Allergies above).
• 25/3/2007-27/3/2007: hospitalised for two night sleep study. Study showed frequent and severe blood oxygen desaturations.
• 21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
• 28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
• 18/12/2006-19/12/2006: admitted to day surgery for MRI scan. Reacted poorly to anaesthetic and hospitalised for one night.
• 4/12/2006-8/12/2006: hospitalised for NGT placement and training.
• 18/3/2006: Born in Calvary hospital. Normal full term delivery.

Immunisations:
Up-to-date (as of 9/4/2009).
(this includes an influenza vaccination for 2009 winter).

Drugs Previously Taken:

• temp list:
• Ciprofloxacin (ear drops) - antibiotic for middle ear infection (first taken 31/1/2008)
  
• Prednisolone (oraly) - anti-inflamitory? (used to reduce the swelling of Raphael's tonsils)
• Demazin (oraly) - cough management
• Paracetamol (oraly) - pain relief
• Ibuprofin (oraly) - pain relief
• *Codine (iv[?]) - pain releife (*see allergies section)
• Amoxicillin (oraly intramuscular[?] and iv[?]) - antibiotic
• Ceftriaxone (iv) - antibiotic
• Clamohexal Duo (oraly) - antibiotic
  
• Sofradex (ear drops) - antibiotic
  
• local anaesthetic applied along with intramuscular antibiotic
• Drying medication for general anaesthetic
• General anaesthetic and associated drugs
  

Jumping

Well it looks like that trampoline that we bought has been doing good therapy for us.

Raphael jumped for the first time today. Both feet leaving the ground at the same time. He did this in our lounge room, not on a trampoline.

Auslan revision videos

I mentioned to another family that I have been learning Auslan and they asked me to publish my revision videos so here they are. Of course this does not replace doing an Auslan course but I hope you can get something out of them.

Alphabet


Numbers


Let's Sign 1


Let's Sign 2


Beginners 1


Beginners 2


Beginners 3


Beginners 4


Beginners 5a


Beginners 5b


Beginners 6


Level 1-1


Level 1-2


Level 1-3


Level 1-4


Level 1-5a


Level 1-5b


Level 1-6


Level 1-7

Three years old and going strong

Raphael turned three today (yay). We had a party in the park and some present opening inside. He a very full day and ended up totally exhausted, falling asleep in the beanbag.

As you can see from his charts, we have had a very successful nutrition campaign with him that we are all very happy about. However we are now entering a new era of food with him because he is now starting to eat family food. He is now rejecting his old puree's which is unfortunate because they were very easy to fortify with extra nutrition, such as Paediasure. We still have other methods that we can use though. He still likes to drink his Nutrini milk and he loves to eat icecreams that we make out of Sustagen pudding.